Canonical Allele Identifier: CA430307732

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189963477G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098751G>C , CM000664.2:g.189098751G>C	GRCh38
NC_000002.11:g.189963477G>C , CM000664.1:g.189963477G>C	GRCh37
NC_000002.10:g.189671722G>C	NCBI36
NG_011799.1:g.86129C>G
NG_011799.2:g.86129C>G
NG_011799.3:g.131551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.378C>G MANE Select	ENSP00000364000.3:p.Gly126=
ENST00000649966.1:c.240C>G	ENSP00000496785.1:p.Gly80=
ENST00000374866.7:c.378C>G	ENSP00000364000.3:p.Gly126=
ENST00000618828.1:c.-253C>G	ENSP00000482184.1:n.-253C>G
NM_000393.3:c.378C>G	NP_000384.2:p.Gly126=
XM_011510573.1:c.240C>G	XP_011508875.1:p.Gly80=
NM_000393.4:c.378C>G	NP_000384.2:p.Gly126=
XM_011510573.3:c.240C>G	XP_011508875.1:p.Gly80=
NM_000393.5:c.378C>G MANE Select	NP_000384.2:p.Gly126=